Cox7a2l^s
Allele Detail

Summary

• Symbol: Cox7a2l^s
• Name: cytochrome c oxidase subunit 7A2 like; short
• MGI ID: MGI:6276120
• Synonyms: SCAF1¹¹¹
• Gene: Cox7a2l Location: Chr17:83809346-83821762 bp, - strand Genetic Position: Chr17, 53.02 cM
• Alliance: Cox7a2l^s page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Not Applicable (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: This allele contains a 6 bp microdeletion causing the loss of two amino acids and truncating the protein to 111 amino acids instead of 113 amino acids. It is found in BALB/cAnCrl, BALB/cJ, C57BL/6Cr, C57BL/6JCrl, C57BL/6JOlaHsd, C57BL/6NCrl, C57BL/6NJcl, C57BL/6NHsd, C57BL/6NTac, C57BL/6NJ, B6(CG)-Tyr/J, C57BL/6JClr, C57BL/6JArc, C57BL/6JJcl, C57BL/6JJmsSlc, C57BL/6JOla, C57BL/6JOlaHsd, C57BL/6JRcc, C57BL/6JRccHsd, C57BL/6JBom, and C57BL/6JBomTac mice. (J:199458)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 8 strains available Cell Lines: 0 lines available
• Carrying any Cox7a2l Mutation: 60 strains or lines available

Notes

Querying the sequences of the Sanger Mouse Genomes Project reveals that the short allele with its 6 bp deletion exists in C57BL/6J, C57BL/10J, C57BL/6NJ, C58/J, BALB/cJ, C3H/HeH, 129S5/SvEvBrd, NZW/LacZ, and SEA/GnJ, but the long allele lacking the deletion exists in 129S1/SvImJ, A/J, AKR/J, BTBR T⁺ Itpr3^tf/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, CAST/EiJ, CBA/J, DBA/1J, DBA/2J, FVB/NJ, I/LnJ, KK/HiJ, LEWES/EiJ, LP/J, MOLF/EiJ, NOD/ShiLtJ, NZB/BlNJ, NZO/HlLtJ, PWK/PhJ, RF/J, SPRET/EiJ, ST/bJ, WSB/EiJ, ZALENDE/EiJ.

References

• Original: J:199458 Lapuente-Brun E, et al., Supercomplex assembly determines electron flux in the mitochondrial electron transport chain. Science. 2013 Jun 28;340(6140):1567-70
• All: 46 reference(s)